loading...| Preferred Name | Tay-Sachs disease | |
| Synonyms |
Beta-hexosaminidase subunit alpha deficiency HEXA disorder GM2 gangliosidosis, Tay-Sachs variant GM2 gangliosidosis, hexosaminidase A deficiency variant |
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| Definitions |
A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_845 |
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| alternative_term |
Beta-hexosaminidase subunit alpha deficiency HEXA disorder GM2 gangliosidosis, Tay-Sachs variant GM2 gangliosidosis, hexosaminidase A deficiency variant |
|
| definition |
A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=845 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0039373 ICD-10:E75.0 OMIM:272800 MeSH:D013661 MedDRA:10043147 ICD-11:5C56.00 |
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| label |
Tay-Sachs disease |
|
| notation |
ORPHA:845 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98544 http://www.orpha.net/ORDO/Orphanet_207018 |
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| prefixIRI |
ORDO:Orphanet_845 |
|
| prefLabel |
Tay-Sachs disease |
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| present_in |
Czech Republic AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.41 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Arab Emirates AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Canada AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 27.8 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 3.13 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown Turkey AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98544 http://www.orpha.net/ORDO/Orphanet_207018 |
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| subClassOf |